Report of a Novel Mutation inCRB1in a Lebanese Family Presenting Retinal Dystrophy-Reference-Cited by-同舟云学术

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Report of a Novel Mutation inCRB1in a Lebanese Family Presenting Retinal Dystrophy

Published:2013-01-30 Issue:1 Volume:35 Page:57-62
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Jalkh Nadine,Guissart Claire,Chouery Eliane,Yammine Tony,Ali Nagham El,Farah Hanane Abi,Mégarbané André

Publisher

Informa UK Limited

Subject

Genetics(clinical),Ophthalmology,Pediatrics, Perinatology, and Child Health

Link

http://www.tandfonline.com/doi/pdf/10.3109/13816810.2013.763995

Reference16 articles.

1. Retinitis pigmentosa – eine Übersicht

2. Leber congenital amaurosis: a genetic paradigm

3. Update on the molecular genetics of retinitis pigmentosa

4. Retinitis pigmentosa: genetics and gene-based approaches to therapy

Cited by 7 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A novel nonsense variant (c.1499C>G) in CRB1 caused Leber congenital amaurosis-8 in a Chinese family and a literature review;BMC Medical Genomics;2022-09-17

2. Defining inclusion criteria and endpoints for clinical trials: a prospective cross‐sectional study in CRB1 ‐associated retinal dystrophies;Acta Ophthalmologica;2021-02-02

3. The genetics of rod-cone dystrophy in Arab countries: a systematic review;European Journal of Human Genetics;2020-11-13

4. Retinal Dystrophies and the Road to Treatment: Clinical Requirements and Considerations;Asia-Pacific Journal of Ophthalmology;2020-05

5. Introduction to Heterogeneity in Statistical Genetics;Statistics for Biology and Health;2020

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